| Gene | Gene Full Name | DSI g | DPI g | pLI | Disease | Type | Score gda | EL gda | EI gda | N. PMIDs | N. SNPs gda | First Ref. | Last Ref. | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3-ketodihydrosphingosine reductase | 0.674 | 0.538 | 0.12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
5'-aminolevulinate synthase 2 | 0.606 | 0.577 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
7-dehydrocholesterol reductase | 0.500 | 0.846 | 3.9E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ATP binding cassette subfamily B member 6 (Langereis blood group) | 0.431 | 0.885 | 8.6E-19 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
BLM RecQ like helicase | 0.535 | 0.808 | 1.5E-15 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
caseinolytic mitochondrial matrix peptidase chaperone subunit X | 0.931 | 0.154 | 0.92 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
complement C4A (Rodgers blood group) | 0.563 | 0.769 | 1.5E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
coproporphyrinogen oxidase | 0.488 | 0.846 | 0.17 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cystatin B | 0.530 | 0.692 | 6.6E-03 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome b-245 alpha chain | 0.520 | 0.769 | 8.9E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome b-245 beta chain | 0.452 | 0.885 | 1.00 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytochrome b-245 chaperone 1 | 0.736 | 0.462 | 6.0E-04 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
cytotoxic T-lymphocyte associated protein 4 | 0.369 | 0.923 | 0.94 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
damage specific DNA binding protein 2 | 0.576 | 0.654 | 7.4E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
deoxyribonuclease 1 | 0.505 | 0.846 | 7.0E-21 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DNA ligase 4 | 0.478 | 0.846 | 4.2E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
DNA polymerase eta | 0.663 | 0.462 | 3.5E-09 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
EPM2A glucan phosphatase, laforin | 0.608 | 0.577 | 8.7E-06 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 1, endonuclease non-catalytic subunit | 0.445 | 0.846 | 1.6E-07 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 2, TFIIH core complex helicase subunit | 0.420 | 0.846 | 7.1E-20 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 3, TFIIH core complex helicase subunit | 0.504 | 0.846 | 3.4E-11 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 4, endonuclease catalytic subunit | 0.468 | 0.846 | 1.4E-12 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 5, endonuclease | 0.499 | 0.731 | 2.7E-13 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 6, chromatin remodeling factor | 0.507 | 0.808 | 5.2E-22 |
|
phenotype | 0.100 | None | 0 | 0 | |||||||||||
|
ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 0.551 | 0.885 | 2.8E-15 |
|
phenotype | 0.100 | None | 0 | 0 |